Property Summary

NCBI Gene PubMed Count 38
Grant Count 95
R01 Count 35
Funding $19,136,377.62
PubMed Score 481.83
PubTator Score 807.36

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
osteosarcoma -1.399 0.004
group 4 medulloblastoma -1.600 0.000
medulloblastoma, large-cell -2.500 0.000
pancreatic ductal adenocarcinoma liver m... -2.260 0.001
tuberculosis 1.200 0.000
non-small cell lung cancer -1.496 0.000
cystic fibrosis 1.100 0.001
Breast cancer -1.400 0.000
ovarian cancer -1.900 0.000
chronic rhinosinusitis -1.001 0.022

Synonym

Accession Q6ZWL3 B7U6W2 Q6ZTM4
Symbols BCD
CYP4AH1

Gene

PANTHER Protein Class (2)

Gene RIF (31)

PMID Text
26521715 In Bietti crystalline dystrophy patients with CYP4V2 mutations, cone density remained for visual dysfunction by evaluation using high-resolution AO-SLO.
25593508 Four novel mutations were identified, contributing to the spectrum of CYP4V2 mutations associated with Bietti's crystalline dystrophy.
24739949 cytochrome P450 family 4 subfamily V polypeptide 2 (CYP4V2) c.219T>A (p.F73L) mutation may be a recurrent mutation in Chinese patients with Bietti crystalline dystrophy (BCD).
24480711 Likely disease-causing variants were identified in 34 chromosomes from 17 families. Seven were novel, including p.Met66Arg, found in all 11 patients from 8 families of South Asian descent.
23793346 This finding suggests that the crystals in the lens of patients with Bietti crystalline corneoretinopathy may be produced in the same way as corneal or retinal crystalline deposits and therefore result from a systemic abnormality of lipid metabolism.
23538635 The authors identified a case of Bietti crystalline dystrophy with central and paracentral keratopathy and the molecular analysis of the causative gene in a Spanish family.
23242590 The entire coding region and adjacent intronic regions of the CYP4V2 gene were sequenced. Five mutations were identified in the 29-year-old male with Bietti's crystalline dystrophy.
23221965 Sequencing of CYP4V2 revealed nine sequence variants in four unrelated families and six isolated individuals with BCD.
22693542 Compound heterozygous c.802-8_810del17insGC and c.1091-2A>G mutations of the CYP4V2 gene were identified as causative mutations for retinitis pigmentosa
22605929 Two mutations in CYP4V2 were found in three Lebanese families with Bietti crystalline dystrophy: p.I111T (c.332T>C) in exon 3 in two families and the novel p.V458M (c.1372G>A) mutation in exon 9 in one family.
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AA Sequence

MAGLWLGLVWQKLLLWGAASALSLAGASLVLSLLQRVASYARKWQQMRPIPTVARAYPLVGHALLMKPDG      1 - 70
REFFQQIIEYTEEYRHMPLLKLWVGPVPMVALYNAENVEVILTSSKQIDKSSMYKFLEPWLGLGLLTSTG     71 - 140
NKWRSRRKMLTPTFHFTILEDFLDIMNEQANILVKKLEKHINQEAFNCFFYITLCALDIICETAMGKNIG    141 - 210
AQSNDDSEYVRAVYRMSEMIFRRIKMPWLWLDLWYLMFKEGWEHKKSLQILHTFTNSVIAERANEMNANE    211 - 280
DCRGDGRGSAPSKNKRRAFLDLLLSVTDDEGNRLSHEDIREEVDTFMFEGHDTTAAAINWSLYLLGSNPE    281 - 350
VQKKVDHELDDVFGKSDRPATVEDLKKLRYLECVIKETLRLFPSVPLFARSVSEDCEVAGYRVLKGTEAV    351 - 420
IIPYALHRDPRYFPNPEEFQPERFFPENAQGRHPYAYVPFSAGPRNCIGQKFAVMEEKTILSCILRHFWI    421 - 490
ESNQKREELGLEGQLILRPSNGIWIKLKRRNADER                                       491 - 525
//

Text Mined References (40)

PMID Year Title
26521715 2016 Evaluation of Photoreceptors in Bietti Crystalline Dystrophy with CYP4V2 Mutations Using Adaptive Optics Scanning Laser Ophthalmoscopy.
25593508 2014 Identification of novel CYP4V2 gene mutations in 92 Chinese families with Bietti's crystalline corneoretinal dystrophy.
24739949 2014 Molecular analysis and phenotypic study in 14 Chinese families with Bietti crystalline dystrophy.
24480711 2014 Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23793346 2013 Optical coherence tomographic findings of crystal deposits in the lens and cornea in Bietti crystalline corneoretinopathy associated with mutation in the CYP4V2 gene.
23538635 2013 Genotype-phenotype analysis of Bietti crystalline dystrophy in a family with the CYP4V2 Ile111Thr mutation.
23242590 2013 A novel mutation in the CYP4V2 gene in a Chinese patient with Bietti's crystalline dystrophy.
23221965 2013 Clinical and genetic features in Italian Bietti crystalline dystrophy patients.
22916037 2012 Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
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